A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596675



Internal ID21545284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8925194..8925541hg38UCSC Ensembl
chr17:8828511..8828858hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100415
SamplesHG03486
Known GenesPIK3R5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596675
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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